H00555 | |
H number | H00555 |
Name | Char syndrome |
Description | Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of the fifth digits. |
Category | Congenital malformation |
Network | - |
Gene | TFAP2B [HSA:7021] [KO:K09176] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C566815 OMIM: 169100 |
Reference | PMID:21532774 AUTHORS Richards AA, Garg V TITLE Genetics of congenital heart disease. JOURNAL Curr Cardiol Rev 6:91-7 (2010) DOI:10.2174/157340310791162703 PMID:10802654 AUTHORS Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD TITLE Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. JOURNAL Nat Genet 25:42-6 (2000) DOI:10.1038/75578 PMID:20301285 AUTHORS Gelb BD TITLE Char Syndrome JOURNAL GeneReviews (1993) PMID:1342853 AUTHORS Temple IK TITLE Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). JOURNAL Clin Dysmorphol 1:17-21 (1992) |